PROFILE OF PATIENTS WITH PHENYLKETONURIA AT THE NEONATAL SCREENING SERVICE OF MATO GROSSO DO SUL

• Autor(a) principal: Arimura , Edson Rodrigues
• Data de Publicação: 2024
• Outros Autores: Giuliani , Liane de Rosso, Araújo , Poliana Lemes, Machado , Mayaha Bárbara Oliveira do Nascimento, Félix, Têmis Maria
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Brazilian Journal of Implantology and Health Sciences
• DOI: 10.36557/2674-8169.2024v6n1p1532-1548
• Texto Completo: https://bjihs.emnuvens.com.br/bjihs/article/view/1305
• topic: Fenilcetonúrias; Fenilalanina; Fenilalanina Hidroxilase.; Phenylketonuria; Phenylalanine; Phenylalanine Hydroxylase.

The present study aimed to retrospectively evaluate a cohort of patients diagnosed with phenylketonuria, screened by the heel prick test and confirmed by serum phenylalanine measurement by the neonatal screening service in the state of Mato Grosso do Sul, IPED/Apae (SRTN –MS IPED/Apae), the connection between therapeutic adherence and the quantification of breastfeeding and the achievement of age-appropriate neuropsychomotor development. Methods: Retrospective cohort study involved patients treated from July to December 2022, of the 20 patients seen during this period, 5 were excluded from the analysis of data on control of serum phenylalanine while breastfeeding due to lack of data regarding treatment and levels of phenylketonuria in the first year of life, once, who lived in other states and were monitored in other services. Of the patients who participated, clinical and biochemical data, as well as demographic, social and treatment data, were analyzed from medical records. Results: In this group there was 1 case of consanguinity. 66.6% of patients were male. Most patients were diagnosed with classic phenylketonuria (46.6%), followed by 40% with mild phenylketonuria and only 13.3% with a diagnosis of other forms of phenylketonuria. The patients belonged to socioeconomic classes B2, C1, C2, D-E. It was not possible to establish a correlation between the socioeconomic class of patients and better control of the disease. Only two patients presented a delay in neuropsychomotor development, one with non-phenylketonuric hyperphenylalanine and the other with benign hyperphenylaninemia, in both cases the delay is not correlated with hyperphenylaninemia. Conclusion: Phenylketonuria has a good prognosis when diagnosed early and adequate therapy and monitoring are instituted. There is no consensus regarding the suspension of breastfeeding. Studies stating an age/serum phenylalanine dosage that indicates the need to discontinue breastfeeding are encouraged.